Varaico: Literature-Extracted Genetic Variants

ASXL1

1,980 papers

RefSeq Summary

This gene is similar to the Drosophila additional sex combs gene, which encodes a chromatin-binding protein required for normal determination of segment identity in the developing embryo. The protein ...

Pfam Domains

HARE-HTHaa 11–83UCSCHB1, ASXL, restriction endonuclease HTH domain

ASXHaa 236–361UCSCAsx homology domain

PHD_3aa 1483–1539UCSCPHD domain of transcriptional enhancer, Asx

Gene Aliases

HGNC Name

ASXL transcriptional regulator 1

HGNC Alias Symbol

KIAA0978

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015338.6

p.P900L

c.2699C>T

Surrounding Variants

1 paper

NM_015338.6

p.P900fs

c.2698_2699fs

2 papers

NM_015338.6

p.I901fs

c.2701_2702fs

1 paper

NM_015338.6

p.P902insFs

c.2705dupC

1 paper

NM_015338.6

p.I899fs

c.2695_2696fs

1 paper

NM_015338.6

p.P902_S903insFs

c.2705_2708dup4

1 paper

NM_015338.6

p.P902T

c.2704C>A

1 paper

NM_015338.6

p.P902fs

c.2704_2705fs

16 papers

NM_015338.6

p.W898*

c.2694G>A

16 papers

NM_015338.6

p.W898*

c.2693G>A

3 papers

NM_015338.6

p.W898Fs

c.2693_2694delinsCFs

3 papers

NM_015338.6

p.W898fs

c.2692_2693fs

1 paper

NM_015338.6

p.W898delFs

c.2694delG